Skip to main content
SpringerLink
Log in

The Prevalence Of β-Thalassemia Mutations in South Western Maharashtra

  • Original Article
  • Published:
Indian Journal of Clinical Biochemistry Aims and scope Submit manuscript

Abstract

Thalassemia has been recognized by the World Health Organization as important inherited disorders principally impacting on the populations of low income countries. In this report, the prevalence of common β-thalassemia mutations in India was defined in 126 β-thalassemia carrier subjects in a western Indian population mainly from the south-western Maharashtra. The six most common β-thalassemia mutations were detected, which included IVS I-5 (G–C), IVS I-1 (G–T), codon 8–9 (+G), codon 41/42 (–TCTT), Codon 15 (G–A), and 619 bp deletion at 3′ end of β-globin gene. These mutations accounted for 93.66 % in 126 β-thalassemia carrier subjects and 6.34 % remained uncharacterized. Out of 126, 82 (65.07 %) showed the most common (prevalent) type of mutation, IVS I-5 (G–C), followed by IVS I-1 (G–T) showed by 12 (9.52 %) subjects. Three (2.38 %) subjects showed 619 bp deletion, codon 8/9 (+G) and codon 15 (G–A) mutations were present in eight subjects each (6.34 %). Only five (3.96 %) subjects showed codon 41/42 (–TCTT). There were eight (6.34 %) subjects where mutation was not any of the six mutations studied. This study provides the pattern of β thalassemia mutations from south-western Maharashtra, which will help to prevent β-thalassemia using prenatal diagnosis and proper counseling.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1

Similar content being viewed by others

References

  1. Weatherall DJ, Clegg JB. Thalassemia: a global public health problem. Nat Med. 1996;2:847–9.

    Article  PubMed  CAS  Google Scholar 

  2. Christianson A, Howson CP, Modell B. March of dimes global report on birth defects. White Plains: March of Dimes Birth Defects Foundation; 2006.

    Google Scholar 

  3. WHO Guidelines for the control of hemoglobin disorders: report of the VIth annual meeting of the WHO working group on haemoglobinopathies, Cagliari, Sardinia, 8–9 April, 1989. Geneva, World Health Organization (unpublished document WHO/HDP/WG/HA/89.2).

  4. Jain V, Sachdev A, Lokeshwar MR. Prevention of thalassemia. In: Sachdeva A, Lokeshwar MR, Shah N, Agarwal BR editors. Hemoglobinopathies. New Delhi: Jaypee Brothers Publishers; 2006. p. 94–104

  5. Sobti PC, Gautam A. Beta- and-related thalassemias: clinical aspects. In: Sachdeva A, Lokeshwar MR, Shah N, Agarwal BR editors. Hemoglobinopathies. New Delhi: Jaypee Brothers Publishers; 2006. p. 49–59

  6. Huisman THJ, Carver MFH, Baysal E. A syllabus of thalassemia mutations. Augusta: The Sickle Cell Anemia Foundation; 1997.

    Google Scholar 

  7. Bittles AH, Hussain R. An analysis of consanguineous marriage in the Muslim population of India at regional and state levels. Ann Hum Biol. 2000;27:163–71.

    Article  PubMed  CAS  Google Scholar 

  8. Steinberg MH, Forget B, Higgs DR, Nagel RL. Disorders of hemoglobin. New York: Cambridge University Press; 2001.

    Google Scholar 

  9. Weatherall DJ, Clegg JB. The thalassemia syndromes. Oxford: Oxford Blackwell Sciences; 2001.

    Book  Google Scholar 

  10. Boehm CD, Antonarakis SE, Phillips JA 3rd, Stetten G, Kazazian HH Jr. Prenatal diagnosis using DNA polymorphism: report on 95 pregnancies at risk for sickle-cell disease or β-thalassemia. N Engl J Med. 1983;308:1054–8.

    Article  PubMed  CAS  Google Scholar 

  11. Sambrook J, Fritsch EF, Maniatis T. Molecular cloning a laboratory manual. 2nd ed. New York: Cold Spring Harbor Laboratory; 1989.

    Google Scholar 

  12. Varawalla NY, Old JM, Sarkar R, Venkatesan R, Weatherall DJ. The spectrum of beta thalassemia mutation on the Indian subcontinent: the basis of prenatal diagnosis. Brit J Haematol. 1991;78(2):242–7.

    Article  CAS  Google Scholar 

  13. Varawalla NY, Old JM, Weatherall DJ. Rare β-thalassemia mutations in Asian Indians. Brit J Haematol. 1991;79:640–4.

    Article  CAS  Google Scholar 

  14. Newton CR, Graham A, Heptinstall LE, Powell SJ, Summers C, Kalsheker N, et al. Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). Nucleic Acids Res. 1989;17:2503–16.

    Article  PubMed  CAS  Google Scholar 

  15. Bandyopadhyay A, Bandyopadhyay S, Chowdhury MD, Dasgupta UB. Major β-globin gene mutations in eastern India and their associated haplotypes. Hum Hered. 1999;49:232–5.

    Article  PubMed  CAS  Google Scholar 

  16. Haig HK Jr, Corinne OB. Molecular basis and prenatal diagnosis of beta-thalassemia. Blood. 1988;72(4):1107–16.

    Google Scholar 

  17. Agarwal S, Hattori Y, Agarwal SS. Rare beta thalassemia mutation in Asian Indians. Am J Hematol. 2000;65(4):322–3.

    Article  PubMed  CAS  Google Scholar 

  18. Ambekar SS, Phadke MA, Balpande DN, Mokashi GD, Khedkar VA, Bankar MP, et al. The prevalence and heterogeneity of beta thalassemia mutations in the western Maharashtra population: a hospital based study. Int J Hum Genet. 2001;1(3):219–23.

    Google Scholar 

  19. Panigrahi I, Marwaha RK. Mutational spectrum of thalassemia in India. Indian J Hum Genet. 2007;13(1):36–7.

    Article  PubMed  CAS  Google Scholar 

  20. Verma IC, Saxena R, Thomas E, Jain PK. Regional distribution of thalassemia mutation in India. Hum Genet. 1997;100:109–13.

    Article  PubMed  CAS  Google Scholar 

  21. Vaz FE, Thakur CB, Banerjee MK, Gangal SG. Distribution of beta thalassemia mutation in the Indian population referred to diagnostic centre. Hemoglobin. 2000;24:181–94.

    Article  PubMed  CAS  Google Scholar 

  22. Agarwal S, Naveed M, Gupta UR, Kishore P, Agarwal SS. Characterization of beta thalassemia mutation in 57 beta thalassemia families seen at Lucknow. Indian J Med Res. 1994;100:106–10.

    PubMed  CAS  Google Scholar 

  23. Madan N, Sharma S, Rusia U, Sen S, Sood SK. Beta thalassemia in northern India (Delhi). Indian J Med Res. 1998;107:134–41.

    PubMed  CAS  Google Scholar 

  24. Nigam N, Munshi N, Patel M, Soni A. Distribution of beta thalassemia mutation and its correlation with alpha thalassemia in Gujarati families. Int J Hum Genet. 2003;3(4):221–4.

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Biochemistry, Government Medical College, Sangli, Miraj, Maharashtra, India

    Sandeep B. Satpute

  2. Department of Biochemistry, B. J. Medical College, Pune, Maharashtra, India

    Mangesh P. Bankar

  3. Department of Biochemistry, MVPS Dr. Vasantrao Pawar Medical College, Adgaon, Nashik, Maharashtra, India

    Abdulrahaman A. Momin

Authors
  1. Sandeep B. Satpute
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Mangesh P. Bankar
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Abdulrahaman A. Momin
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Sandeep B. Satpute.

Electronic supplementary material

Below is the link to the electronic supplementary material.

Supplementary material 1 (DOC 47 kb)

Rights and permissions

Reprints and permissions

About this article

Cite this article

Satpute, S.B., Bankar, M.P. & Momin, A.A. The Prevalence Of β-Thalassemia Mutations in South Western Maharashtra. Ind J Clin Biochem 27, 389–393 (2012). https://doi.org/10.1007/s12291-012-0230-y

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s12291-012-0230-y

Keywords

Search

Navigation